Details of Disease

General Information of Disease (ID: DISH25CS)

• Disease Name: Antley-Bixler syndrome
• Synonyms: osteodysgenesis, multisynostotic, with fractures; osteodysgenesis, multisynostotic with fractures; trapezoidocephaly synostosis syndrome; multisynostotic osteodysgenesis with long bone fractures; Antley Bixler syndrome; trapezoidocephaly-synostosis syndrome
• Definition: Antley-Bixler syndrome is a very rare disorder characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.
• Disease Hierarchy:
  DIS8FENM: Craniosynostosis syndrome, autosomal recessive
  DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
  DISEUVBK: Syndromic craniosynostosis
  DISH25CS: Antley-Bixler syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0008803
  MESH ID: D054882
  UMLS CUI: C5234850
  MedGen ID: 1714404
  Orphanet ID: 83
  SNOMED CT ID: 62964007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FGFR2	TTGJVQM	Supportive	Autosomal dominant	[1]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
POR	DE3N2FM	Supportive	Autosomal dominant	[2]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FGFR2	OTLOPACK	Supportive	Autosomal dominant	[1]
POR	OTVIDOCH	Supportive	Autosomal dominant	[2]

References

• [1] FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome. Am J Med Genet. 1998 May 18;77(3):219-24. doi: 10.1002/(sici)1096-8628(19980518)77:3<219::aid-ajmg6>3.0.co;2-k.
• [2] Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. J Clin Endocrinol Metab. 2005 Jan;90(1):414-26. doi: 10.1210/jc.2004-0810. Epub 2004 Oct 13.